Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_IsolatedAndComplex

Gene: GATA2

Green List (high evidence)

GATA2 (GATA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179348
EnsemblGeneIds (GRCh37): ENSG00000179348
OMIM: 137295, Gene2Phenotype
GATA2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.

Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.

Less common manifestations of GATA2 deficiency include lymphoedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome': gene included in this panel for this association (likely represents continuum rather than distinct disorder).

Over 20 unrelated individuals reported.
Sources: Expert Review
Created: 20 Dec 2021, 12:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Emberger syndrome, MIM# 614038
  • Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
OMIM
137295
Clinvar variants
Variants in GATA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata2 has been classified as Green List (High Evidence).

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gata2 has been classified as Green List (High Evidence).

20 Dec 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GATA2 was added gene: GATA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA2 were set to 21670465; 21242295; 21892158 Phenotypes for gene: GATA2 were set to Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 Review for gene: GATA2 was set to GREEN